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Validation of a guidelines-based digital tool to assess the need for cancer genetic testing

Poster presented at the 2021 National Society of Genetic Counselors Annual Conference

Authors: Kiley Johnson, Callan Russell, Hanah Cyton, Ashley V. Daley, Kaylene Ready, Durand Van Arnem, Cary M. Armstrong, Mark Sylvester, Jill Davies, Colleen Caleshu

Background: The majority of individuals with a hereditary predisposition to cancer are unaware of their increased risk. New scalable, efficient, and reliable approaches are needed to identify these patients. We developed the RISE hereditary cancer risk assessment tool, a brief self-administered digital tool that can be used to screen various populations for need for cancer genetic testing, based on national guidelines.

Aim: To assess the clinical validity of the RISE hereditary cancer risk assessment tool by comparing the tool’s assessment of need for genetic testing to the same assessment made by a cancer genetic counselor (GC).

Methods: Retrospectively selected pre-test oncology cases from our telehealth genetic counseling practice were used in validation of the tool. Cases that met criteria by GC assessment were purposively sampled to ensure the dataset covered the various ways patients most frequently meet criteria. For patients that did not meet criteria, consecutive cases were selected. Relevant history was extracted via chart review and then entered into the tool by study staff.

Results: Most patients (78/94 (83%)) were female and the mean age was 47.2 years old (standard deviation (SD) 15.4). 39/94 (41.5%) of patients had a personal history of cancer. Half 46/94 (48.9%) of cases met criteria for genetic testing, based on GC assessment, following national guidelines. There was 100% agreement between GC and tool (95% confidence interval 96.2%-100.0%). All 38/38 (100%) criteria frequently invoked in clinic were met by at least one case in the validation dataset. We observed that many cases met criteria multiple ways, further supporting concern for an inherited predisposition. Of cases that met criteria for genetic testing, 69.6% met criteria more than one way, with each case meeting criteria a mean of 3.7 (SD 2.2) different ways. Entry of history into the tool took a mean of 2.6 minutes (SD 0.6).

Conclusions: The high degree of agreement between the tool and GC suggests that the RISE hereditary cancer risk assessment tool is a clinically valid method of identifying individuals in need of evaluation for hereditary cancer predisposition. Our data also suggest that patients can quickly get an assessment using the tool, which is key to scalability and feasibility. Further validation with a larger prospectively ascertained cohort of consecutive cases would help in confirmation of these findings and estimation of sensitivity and specificity.

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